scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

Prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for Down syndrome

1999 ◽  
Vol 86 (2) ◽  
pp. 175-177 ◽  
Author(s):  
Jen-Huang Chen ◽  
Te-Yao Hsu ◽  
Chia-Yu Ou ◽  
Lih-Feng Chang ◽  
Shiuh-Young Chang ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

2018 ◽  
Vol 26 (7) ◽  
pp. 1005-1012 ◽  
Author(s):  
Chunyan Li ◽  
Biliang Chen ◽  
Jiao Zheng ◽  
Lu Cheng ◽  
Tingting Song ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Sex Chromosome ◽  
Trisomy 13 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Microdeletion Syndromes ◽  
Structural Abnormalities ◽  
Chromosomal Aneuploidies

Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes. Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Results: The overall abnormality detection rate (BoBs combined with karyotyping) was 7.73% (282/3647). A total of 209 chromosomal aneuploidies, 10 mosaic cases, 11 microdeletion/microduplication syndromes, and 52 structural abnormalities were observed. Both assays were concordant for trisomy 21 (4.22%, 154/3647), trisomy 18 (0.69%, 25/3647), trisomy 13 (0.05%, 2/3647), and sex chromosome aneuploidies (0.77%, 28/3647). Meanwhile, DiGeorge syndrome (0.05%, 2/3647), 22q11.2 microduplication (0.08%, 3/3647), Smith-Magenis syndrome (0.03%, 1/3647), 17p11.2 microduplication (0.03%, 1/3647), Wolf-Hirschhorn syndrome (0.03%, 1/3647), Williams-Beuren syndrome (0.03%, 1/3647), Cri du Chat syndrome (0.03%, 1/3647), and Miller-Dieker syndrome (0.03%, 1/3647) were identified by BoBs assay, thus giving the incidence of the detection of these syndromes of 0.30% (11/3647). Conclusion: BACs-on-Beads assay is a reliable test for rapid detection of common aneuploidies and microdeletion syndromes, combining with karyotyping, FISH, and CMA, to improve the efficiency and accuracy of prenatal diagnosis to alleviate maternal emotional anxiety.

Neural Tube Defects: Maternal Serum Screening and Prenatal Diagnosis

1978 ◽  
Vol 25 (3) ◽  
pp. 619-629 ◽  
Author(s):  
Barbara F. Crandall ◽  
Thomas B. Lebherz ◽  
Raimund Freihube
Keyword(s):  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening

scholarly journals A Case of Prenatal Diagnosis of Trisomy 18 with Ultrasound

2016 ◽  
Author(s):  
Yusrawati Yusrawati ◽  
Yudha M Kartika
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Hernia ◽  
Chromosome Analysis ◽  
Serum Markers ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Term Pregnancy ◽  
Edwards Syndrome ◽  
Umbilical Hernia Repair ◽  
Female Baby

Objective: To report a case of trisomy 18 diagnosed in prenatal care. Methods: Case report. Case: A 24 years old primigravida woman was diagnosed with term pregnancy (37-38 weeks) with an intrauterine singleton live fetus with Edwards syndrome. In 15-16 weeks of pregnancy the omphalocele was discovered using ultrasound. Subsequently, amniocentesis was performed and the chromosome analysis result showed Edwards syndrome (47, XX +18). The patient chose to continue the pregnancy until term. In this patient, elective CS was performed at term pregnancy, involving teamwork between obstetrics and perinatology. A female baby was born weighing 1720 grams, 40 cm body length, and APGAR score of 5/7. The congenital anomalies discovered include umbilical hernia, rocker bottom feet, clenched hands, low set malformed ears, and a single umbilical artery. The baby was born with asphyxia, improved after resuscitation, and required treatment in the NICU. Pediatric surgeons planned umbilical hernia repair. Furthermore, because of the presence of suspected esophageal atresia, the baby was planned for gastrotomy, which was delayed because the baby was experiencing desaturation. Because of the unstable condition of the baby, echocardiography and gastrotomy were not done until the 18th day of treatment. At the 18th day, the baby’s condition deteriorated and the baby died with metabolic acidosis. Conclusion: Edwards syndrome can be diagnosed in the prenatal period by risk factors consideration, maternal serum markers, and ultrasonographic identification of organ abnormalities. [Indones J Obstet Gynecol 2015; 3-4: 234-238] Keywords: Edwards syndrome, prenatal diagnosis, trisomy 18, ultrasound

Cost-effectiveness analysis of prenatal diagnosis intervention for Down's syndrome in China

2007 ◽  
Vol 23 (1) ◽  
pp. 138-145 ◽  
Author(s):  
Yingyao Chen ◽  
Xu Qian ◽  
Jun Li ◽  
Jie Zhang ◽  
Annie Chu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cost Effectiveness ◽  
Uptake Rate ◽  
Maternal Age ◽  
Cost Effective ◽  
Screening Strategy ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Serum Screening ◽  
The Cost

Objectives: The cost-effectiveness of prenatal diagnosis intervention for Down's syndrome (DS) in China was assessed and evidence-based information for policy makers and providers is presented.Methods: Based on field surveys in four selected cities in China and a literature review, the economic evaluation of prenatal diagnosis for DS from a societal perspective is conducted by cost-effectiveness analysis.Results: In current clinical practice, for a cohort of 10,000 pregnant women, the strategy that delivers karyotyping by chorionic villus sampling (CVS) or amniocentesis (AC) only to those pregnant women 35 years of age and older (maternal age screening strategy) can detect .67 DS births. The strategy that offers the diagnostic test after maternal serum screening with α-fetoprotein and human chorionic gonadotrophin (maternal serum screening strategy) can detect 1.41 DS births. The cost per prevented DS birth by the maternal age screening strategy and maternal serum screening strategy is US$13,091 and US$56,048, respectively. Sensitivity analysis shows that the maternal serum screening strategy can be cost-effective if uptake rate of CVS or AC for patients with positive serum tests increase while the cost of serum screening decreases.Conclusions: Although, in general, serum screening has been found to be more cost-effective than maternal age screening, this appears not to be the case in China. The reasons appear to be low uptake rate of the maternal serum strategy, low uptake rate of CVS or AC, and the high price of serum screening. Our findings are that health system factors concerning technology utilization are important determinants of the technology's efficiency.

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